Jorge Di Paola  dipaolaj@wustl.edu

Profile picture
Professor of Pediatrics, Division Chief, Hematology & Oncology
Professor of Pediatrics, Genetics and Genomic Medicine
Genetics and Genomic MedicineHematology and Oncology

phone: (314) 454-6018

Education

  • MD, University of Buenos Aires1990

Training

  • Pediatric Residency, Hospital Nacional de Pediatría “Juan P. Garrahan”1991 - 1994
  • Pediatric Hematology-Oncology Fellowship, Children’s Hospital of Orange County1995 - 1997
  • Pediatric Residency 2nd & 3rd years, Children’s Hospital of Orange County1997 - 1999
  • Hematology-Oncology Fellowship 3rd year, Children’s Hospital of Orange County1999 - 2000

Licensure and Board Certification

  • CA, California Medical License
  • IA, Iowa Medical License
  • CO, Colorado Medical License
  • 2000 - PresAmerican Board of Pediatric (Hematology & Oncology)

Honors and Awards

  • Scholar, Children’s Health Research Center (CHRC-K12-NIH) University of Iowa2001 - 2003
  • Hemophilia and Thrombosis Research Society Investigator in Hemostasis Award2003
  • James C. Taylor Teaching Award, University of Iowa, Department of Pediatrics2003
  • The Inaugural Postle Family Chair in Pediatric Cancer and Blood Disorders, Children's Hospital Colorado2008 - 2019
  • Best Doctors in America2009
  • Vice-President, President Elect: Hemostasis and Thrombosis Research Society (HTRS)2010
  • Best Doctors in America2011
  • Best Doctors in America2012
  • Excellence in Mentoring and Advising Award, Research/Scholarship, University of Colorado School of Medicine2012
  • Chair, Von Willebrand Factor Subcommittee, International Society of Thrombosis and Hemostasis (ISTH)2013 - 2016
  • Frank Oski Memorial Lectureship Award, American Society of Pediatric Hematology Oncology2013
  • Chair, State of the Art Symposium, American Society of Hematology (ASH)2014
  • Co-Vice Chair, Gordon Research Conference in Hemostasis2014
  • Elected Member-At-Large of the Leadership Committee of the Arteriosclerosis Thrombosis and Vascular Biology (ATVB) Council of the American Heart Association (AHA)2014
  • Arthur R. Thompson Inaugural Lectureship, Puget Sound Blood Center, University of Washington2015
  • Best Doctors in America2015
  • Co-Chair (with James Morrissey, PhD), Gordon Research Conference in Hemostasis2016
  • Co-Chair (with Selina Luger, MD), Education Program American Society of Hematology Annual 58th Annual Meeting2016
  • Scientific Advisory Board, National Rare Diseases Center (CIBERER), Spain2016 - Pres
  • Visiting Professor, Aflac Cancer and Blood Disorders Center Fall Research Conference, Emory University2016
  • Best Doctors in America2017
  • Elected Member, American Association of Physicians (AAP)2017
  • Elected Member International Society of Thrombosis and Haemostasis (ISTH) Council, Class of 20242018
  • Elected Vice President (President Elect) American Society of Pediatric Hematology Oncology (ASPHO)2018
  • Ralph Gruppo Inaugural Lectureship, Cincinnati Children's Hospital2018

Recent Publications view all (103)


  1. An international survey to inform priorities for new guidelines on von Willebrand disease. Haemophilia. 2019. PMID:31769905 
  2. Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy. FASEB J. 2019;33(11):12477-12486. PMCID:PMC6902697  PMID:31450979 
  3. A mathematical model of coagulation under flow identifies factor V as a modifier of thrombin generation in hemophilia A. J Thromb Haemost. 2019. PMID:31562694 
  4. Turbulent Flow Promotes Cleavage of VWF (von Willebrand Factor) by ADAMTS13 (A Disintegrin and Metalloproteinase With a Thrombospondin Type-1 Motif, Member 13). Arterioscler Thromb Vasc Biol. 2019;39(9):1831-1842. PMID:31291760 
  5. TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging. Blood. 2019;134(9):727-740. PMCID:PMC6716075  PMID:31311815 
  6. ETV6-related thrombocytopenia and leukemia predisposition. Blood. 2019;134(8):663-667. PMCID:PMC6706811  PMID:31248877 
  7. Pro-inflammatory cytokine blockade attenuates myeloid expansion in a murine model of rheumatoid arthritis. Haematologica. 2019. PMID:31101752 
  8. Increased galactose expression and enhanced clearance in patients with low von Willebrand factor. Blood. 2019;133(14):1585-1596. PMID:30770394 
  9. Loss of fibrinogen in zebrafish results in an asymptomatic embryonic hemostatic defect and synthetic lethality with thrombocytopenia. J Thromb Haemost. 2019;17(4):607-617. PMCID:PMC6443434  PMID:30663848 
  10. Recovery and analysis of transcriptome subsets from pooled single-cell RNA-seq libraries. Nucleic Acids Res. 2019;47(4):e20. PMCID:PMC6393243  PMID:30496484 
  11. One over PAR or one under PAR: vive la différence. Blood. 2018;132(19):2007-2008. PMCID:PMC6236467  PMID:30409895 
  12. Antiplatelet Effect of Ketorolac in Children After Congenital Cardiac Surgery. World J Pediatr Congenit Heart Surg. 2018;9(6):651-658. PMID:30322371 
  13. Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease. Res Pract Thromb Haemost. 2018;2(4):630-639. PMCID:PMC6178711  PMID:30349880 
  14. Identification and characterization of novel mutations implicated in congenital fibrinogen disorders. Res Pract Thromb Haemost. 2018;2(4):800-811. PMCID:PMC6178649  PMID:30349899 
  15. NBEAL2 mutations and bleeding in patients with gray platelet syndrome. Platelets. 2018;29(6):632-635. PMID:29869935 
  16. A local and global sensitivity analysis of a mathematical model of coagulation and platelet deposition under flow. PLoS One. 2018;13(7):e0200917. PMCID:PMC6062055  PMID:30048479 
  17. Significant gynecological bleeding in women with low von Willebrand factor levels. Blood Adv. 2018;2(14):1784-1791. PMCID:PMC6058240  PMID:30042144 
  18. Chitinase 3-like-1 promotes intrahepatic activation of coagulation through induction of tissue factor in mice. Hepatology. 2018;67(6):2384-2396. PMCID:PMC5992002  PMID:29251791 
  19. von Willebrand Disease: Diagnostic Strategies and Treatment Options. Pediatr Clin North Am. 2018;65(3):527-541. PMID:29803281 
  20. GAS6/TAM Pathway Signaling in Hemostasis and Thrombosis. Front Med (Lausanne). 2018;5:137. PMCID:PMC5954114  PMID:29868590 
  21. Effects of anti-β2GPI antibodies on VWF release from human umbilical vein endothelial cells and ADAMTS13 activity. Res Pract Thromb Haemost. 2018;2(2):380-389. PMCID:PMC5974922  PMID:30046742 
  22. The small-molecule MERTK inhibitor UNC2025 decreases platelet activation and prevents thrombosis. J Thromb Haemost. 2018;16(2):352-363. PMCID:PMC5858881  PMID:29045015 
  23. Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels. J Thromb Haemost. 2018;16(1):104-115. PMCID:PMC5794217  PMID:29064615 
  24. Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood. 2017;130(21):2344-2353. PMCID:PMC5881608  PMID:28916584 
  25. Editor's Highlight: Pulmonary Vascular Thrombosis in Rats Exposed to Inhaled Sulfur Mustard. Toxicol Sci. 2017;159(2):461-469. PMCID:PMC5837673  PMID:28962529 
  26. Limit of detection and threshold for positivity of the Centers for Disease Control and Prevention assay for factor VIII inhibitors. J Thromb Haemost. 2017;15(10):1971-1976. PMCID:PMC5716470  PMID:28795528 
  27. The ENTPD1 promoter polymorphism -860 A > G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk. FASEB J. 2017;31(7):2771-2784. PMCID:PMC6137499  PMID:28302652 
  28. Peptides derived from MARCKS block coagulation complex assembly on phosphatidylserine. Sci Rep. 2017;7(1):4275. PMCID:PMC5487340  PMID:28655899 
  29. Tamoxifen Suppresses Platelet Activation-Supported Angiogenesis and Metastasis. Arterioscler Thromb Vasc Biol. 2017;37(4):611-612. PMCID:PMC5873979  PMID:28330945 
  30. Microangiopathic hemolytic anemia due to ADAMTS-13 loss in idiopathic systemic capillary leak syndrome: reply. J Thromb Haemost. 2017;15(4):827-828. PMID:28182327 
  31. A microfluidic model of hemostasis sensitive to platelet function and coagulation. Cell Mol Bioeng. 2017;10(1):3-15. PMCID:PMC5435378  PMID:28529666 
  32. Microangiopathic hemolytic anemia due to ADAMTS-13 loss in idiopathic systemic capillary leak syndrome. J Thromb Haemost. 2016;14(12):2353-2355. PMCID:PMC6553946  PMID:27622772 
  33. Variable bleeding phenotype in an Amish pedigree with von Willebrand disease. Am J Hematol. 2016;91(10):E431-5. PMCID:PMC5031525  PMID:27414491 
  34. Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay. J Thromb Haemost. 2016;14(10):1931-1940. PMCID:PMC5083216  PMID:27501440 
  35. Platelet clearance via shear-induced unfolding of a membrane mechanoreceptor. Nat Commun. 2016;7:12863. PMCID:PMC5052631  PMID:27670775 
  36. Platelet abnormalities in a family with von Willebrand disease type 2B (V1316M) and association with bleeding score. Haemophilia. 2016;22(5):e455-8. PMID:27385556 
  37. Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF. Thromb Res. 2016;145:112-8. PMCID:PMC5951169  PMID:27533707 
  38. Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice. PLoS One. 2016;11(3):e0150852. PMCID:PMC4780761  PMID:26950939 
  39. Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH. J Thromb Haemost. 2016;14(2):411-4. PMID:26882161 
  40. Paris-Trousseau: evidence keeps pointing to FLI1. Blood. 2015;126(17):1973-4. PMID:26494917 
  41. ETV6 mutations define a new cancer predisposition syndrome. Oncotarget. 2015;6(19):16830-1. PMCID:PMC4627276  PMID:26219557 
  42. Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease. Blood. 2015;126(2):262-9. PMCID:PMC4497966  PMID:26019279 
  43. Microfluidic technology as an emerging clinical tool to evaluate thrombosis and hemostasis. Thromb Res. 2015;136(1):13-9. PMCID:PMC4910695  PMID:26014643 
  44. Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH. J Thromb Haemost. 2015;13(7):1345-50. PMCID:PMC5576173  PMID:25858564 
  45. Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations. J Thromb Haemost. 2015;13(6):1036-42. PMCID:PMC4512234  PMID:25780857 
  46. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47(5):535-538. PMCID:PMC4631613  PMID:25807284 
  47. Diagnostic approach to von Willebrand disease. Blood. 2015;125(13):2029-37. PMCID:PMC4375103  PMID:25712990 
  48. Characterization of the anti-factor VIII immunoglobulin profile in patients with hemophilia A by use of a fluorescence-based immunoassay. J Thromb Haemost. 2015;13(1):47-53. PMCID:PMC4383171  PMID:25354263 
  49. Genetic basis of congenital platelet disorders. Hematology Am Soc Hematol Educ Program. 2014;2014(1):337-42. PMID:25696876 
  50. Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue? Tremor Other Hyperkinet Mov (N Y). 2014;4:258. PMCID:PMC4219111  PMID:25374765 
  51. Factor XIII activity mediates red blood cell retention in venous thrombi. J Clin Invest. 2014;124(8):3590-600. PMCID:PMC4109540  PMID:24983320 
  52. Understanding congenital platelet disorders. Clin Adv Hematol Oncol. 2014;12(7):461-3. PMID:25322327 
  53. FVIII/VWF ratio is not a reliable predictor of VWD in children. Pediatr Blood Cancer. 2014;61(5):936-9. PMID:24281894 
  54. Platelets join the world of "Omics". Blood. 2014;123(16):2446-7. PMID:24744250 
  55. A study of prospective surveillance for inhibitors among persons with haemophilia in the United States. Haemophilia. 2014;20(2):230-7. PMCID:PMC4519821  PMID:24261612 
  56. A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. Gene. 2014;533(1):447-50. PMID:24103481 
  57. Discovery of Mer specific tyrosine kinase inhibitors for the treatment and prevention of thrombosis. J Med Chem. 2013;56(23):9693-700. PMCID:PMC3962266  PMID:24219778 
  58. The effect of factor VIII deficiencies and replacement and bypass therapies on thrombus formation under venous flow conditions in microfluidic and computational models. PLoS One. 2013;8(11):e78732. PMCID:PMC3827262  PMID:24236042 
  59. Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice. Blood. 2013;122(19):3349-58. PMCID:PMC3953091  PMID:23861251 
  60. Prophylactic efficacy and pharmacokinetically guided dosing of a von Willebrand factor/factor VIII concentrate in adults and children with von Willebrand's disease undergoing elective surgery: a pooled and comparative analysis of data from USA and European Union clinical trials. Blood Transfus. 2013;11(4):533-40. PMCID:PMC3827397  PMID:23736911 
  61. Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits. Mol Genet Genomic Med. 2013;1(3):131-141. PMCID:PMC3775389  PMID:24058921 
  62. Comparison of clot-based, chromogenic and fluorescence assays for measurement of factor VIII inhibitors in the US Hemophilia Inhibitor Research Study. J Thromb Haemost. 2013;11(7):1300-9. PMCID:PMC4477744  PMID:23601690 
  63. SHPing in different directions in platelet production. Blood. 2013;121(20):4018-9. PMID:23682031 
  64. No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation. Blood. 2013;121(18):3742-4. PMCID:PMC3643771  PMID:23520336 
  65. Limited physical therapy utilization protocol does not affect impairment and disability in Workers' Compensation patients after rotator cuff repair: a short-term follow-up study. J Shoulder Elbow Surg. 2013;22(3):409-17. PMID:22939405 
  66. New developments in the treatment of pediatric hemophilia and bleeding disorders. Curr Opin Pediatr. 2013;25(1):23-30. PMID:23274430 
  67. Tissue factor signals airway epithelial basal cell survival via coagulation and protease-activated receptor isoforms 1 and 2. Am J Respir Cell Mol Biol. 2013;48(1):94-104. PMCID:PMC3547080  PMID:23065128 
  68. Sources of variability in platelet accumulation on type 1 fibrillar collagen in microfluidic flow assays. PLoS One. 2013;8(1):e54680. PMCID:PMC3552855  PMID:23355889 
  69. Dysregulated coagulation associated with hypofibrinogenaemia and plasma hypercoagulability: implications for identifying coagulopathic mechanisms in humans. Thromb Haemost. 2012;108(3):516-26. PMCID:PMC3627352  PMID:22836883 
  70. Validation of Nijmegen-Bethesda assay modifications to allow inhibitor measurement during replacement therapy and facilitate inhibitor surveillance. J Thromb Haemost. 2012;10(6):1055-61. PMCID:PMC4477703  PMID:22435927 
  71. F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia. 2012;18(3):375-82. PMID:22103590 
  72. Disability, impairment, and physical therapy utilization after arthroscopic partial meniscectomy in patients receiving workers' compensation. J Bone Joint Surg Am. 2012;94(6):523-30. PMID:22438001 
  73. Making a diagnosis of VWD. Hematology Am Soc Hematol Educ Program. 2012;2012:161-7. PMCID:PMC5873588  PMID:23233576 
  74. Characterization of collagen thin films for von Willebrand factor binding and platelet adhesion. Langmuir. 2011;27(22):13648-58. PMID:21967679 
  75. Thrombocytopenias due to gray platelet syndrome or THC2 mutations. Semin Thromb Hemost. 2011;37(6):690-7. PMID:22102272 
  76. Presurgical pharmacokinetic analysis of a von Willebrand factor/factor VIII (VWF/FVIII) concentrate in patients with von Willebrand's disease (VWD) has limited value in dosing for surgery. Haemophilia. 2011;17(5):752-8. PMID:21689209 
  77. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011;43(8):738-40. PMCID:PMC6050511  PMID:21765413 
  78. Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood. 2011;117(12):3430-4. PMCID:PMC3069679  PMID:21263149 
  79. Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor. Blood. 2010;116(2):280-6. PMCID:PMC2910611  PMID:20231421 
  80. Recombinant factor IX for clinical and research use. Semin Thromb Hemost. 2010;36(5):498-509. PMID:20632248 
  81. The application of genetics to inherited bleeding disorders. Haemophilia. 2010;16 Suppl 5:35-9. PMID:20590854 
  82. Comparative pharmacokinetics of plasma- and albumin-free recombinant factor VIII in children and adults: the influence of blood sampling schedule on observed age-related differences and implications for dose tailoring. J Thromb Haemost. 2010;8(4):730-6. PMCID:PMC2855866  PMID:20398185 
  83. Break-through bleeding in relation to predicted factor VIII levels in patients receiving prophylactic treatment for severe hemophilia A. J Thromb Haemost. 2009;7(3):413-20. PMID:19143924 
  84. Evaluation of thromboelastography for monitoring recombinant activated factor VII ex vivo in haemophilia A and B patients with inhibitors: a multicentre trial. Blood Coagul Fibrinolysis. 2008;19(4):276-82. PMID:18469548 
  85. Secondary prophylaxis with recombinant activated factor VII improves health-related quality of life of haemophilia patients with inhibitors. Haemophilia. 2008;14(3):466-75. PMID:18282155 
  86. Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease. Haemophilia. 2008;14(3):539-48. PMID:18312368 
  87. VWD type 1: a calculated diagnosis. Blood. 2008;111(8):3919-20. PMID:18434968 
  88. Critical role for the mitochondrial permeability transition pore and cyclophilin D in platelet activation and thrombosis. Blood. 2008;111(3):1257-65. PMCID:PMC2214770  PMID:17989312 
  89. ReFacto and Advate: a single-dose, randomized, two-period crossover pharmacokinetics study in subjects with haemophilia A. Haemophilia. 2007;13(2):124-30. PMID:17286764 
  90. Application of current knowledge to the management of bleeding events during immune tolerance induction. Haemophilia. 2006;12(6):591-7. PMID:17083508 
  91. Role of FcRgamma and factor XIIIA in coated platelet formation. Blood. 2005;106(13):4146-51. PMCID:PMC1895237  PMID:16105983 
  92. Index of suspicion. Pediatr Rev. 2005;26(12):461-6. PMID:16327027 
  93. Determinants of bleeding severity in von Willebrand disease. Curr Hematol Rep. 2005;4(5):345-9. PMID:16131434 
  94. Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel. J Thromb Haemost. 2005;3(7):1511-21. PMID:15978109 
  95. The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B. Blood. 2005;105(2):518-25. PMID:15383463 
  96. Product selection issues in the management of hemophilia B. Blood Coagul Fibrinolysis. 2004;15 Suppl 2:S17-8. PMID:15322454 
  97. Deep venous thrombosis and Turner syndrome. J Pediatr Hematol Oncol. 2004;26(4):272. PMID:15087960 
  98. Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene. J Thromb Haemost. 2004;2(3):437-40. PMID:15009460 
  99. Role of the adapter protein SLP-76 in GPVI-dependent platelet procoagulant responses to collagen. Blood. 2002;100(8):2839-44. PMID:12351393 
  100. Immune thrombocytopenic purpura. Pediatr Clin North Am. 2002;49(5):911-28. PMID:12430619 
  101. Current therapy for rare factor deficiencies. Haemophilia. 2001;7 Suppl 1:16-22. PMID:11240614 
  102. Low platelet alpha2beta1 levels in type I von Willebrand disease correlate with impaired platelet function in a high shear stress system. Blood. 1999;93(11):3578-82. PMID:10339461 
  103. Sequential study of the histopathology and cellular and humoral immune response during the development of an autoimmune orchitis in Wistar rats. Am J Reprod Immunol. 1989;20(2):44-51. PMID:2803528 
Last updated: 08/10/2020
© 2020 by Washington University in St. Louis
One Brookings Drive, St. Louis, MO 63130